Genetic epilepsy syndromesGene: EPM2A
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR progressive myoclonic epilepsy 2A (Lafora) EPM2. Generalised seizures which gradually worsen and become intractable. Minassin et al, 1998 - in 10 families with myocloinc epilepsy - 6 distinct DNA seq variations in EPM2A and 1 hom microdeletion each segregating with disease. On HGMD Pro - 0ver 80 reported variants in association with epilepsy incl Gomez-Garre 2000 - 11 novel mutations in the EPM2A gene. Mutatons seen include missense, nonsense, del, ins and gross del.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epilepsy, progressive myoclonic 2A (Lafora),254780
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases.
Created: 21 Jun 2018, 9:01 a.m.
Source Wessex and West Midlands GLH was added to EPM2A.
Source NHS GMS was added to EPM2A.
Sarah Leigh: Comment on list classification
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to EPM2A. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to EPM2A. Panel: Genetic Epilepsy Syndromes
Gene: epm2a has been classified as Green List (High Evidence).
Publications for gene: EPM2A were set to 14722920; 10932264; 16134145; 11175283
Mode of inheritance for gene: EPM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
EPM2A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
EPM2A was created by Sarah Leigh